Canonical Allele Identifier: CA046618
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs769913281
ExAC: 14:23901071 A / AAGC
MyVariant Identifiers: chr14:g.23901071_23901072insAGC (hg19) chr14:g.23431862_23431863insAGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431862_23431863insAGC , CM000676.2:g.23431862_23431863insAGC GRCh38
NC_000014.8:g.23901071_23901072insAGC , CM000676.1:g.23901071_23901072insAGC GRCh37
NC_000014.7:g.22970911_22970912insAGC NCBI36
NG_007884.1:g.8799_8800insGCT , LRG_384:g.8799_8800insGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.537_538insGCT MANE Select ENSP00000347507.3:p.Glu179_Ser180insAla
ENST00000355349.3:c.537_538insGCT ENSP00000347507.3:p.Glu179_Ser180insAla
NM_000257.3:c.537_538insGCT NP_000248.2:p.Glu179_Ser180insAla
XR_245686.3:n.643_644insGCT
XM_017021340.1:c.537_538insGCT XP_016876829.1:p.Glu179_Ser180insAla
NM_000257.4:c.537_538insGCT MANE Select NP_000248.2:p.Glu179_Ser180insAla
Search 100 bp 5'
Search 100 bp 3'